Variant report

Variant	nsv873063
Chromosome Location	chr1:197007479-197025431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:197024184-197024295	K562	blood:	n/a	n/a
2	CCNT2	chr1:197011538-197011614	K562	blood:	n/a	n/a
3	CTCF	chr1:197014955-197015054	Lung_OC	lung:	n/a	n/a
4	CTCF	chr1:197014954-197015012	GM20000	blood:	n/a	n/a
5	EP300	chr1:197012130-197012656	A549	lung:	n/a	n/a
6	FOSL2	chr1:197012079-197012645	A549	lung:	n/a	n/a
7	FOXA1	chr1:197012111-197012494	HepG2	liver:	n/a	chr1:197012389-197012404
8	FOXA1	chr1:197012045-197012587	HepG2	liver:	n/a	chr1:197012389-197012404
9	FOXA1	chr1:197012129-197012521	HepG2	liver:	n/a	chr1:197012389-197012404
10	FOXA2	chr1:197012165-197012475	HepG2	liver:	n/a	n/a
11	FOXA2	chr1:197011854-197012113	HepG2	liver:	n/a	n/a
12	FOXA2	chr1:197011748-197012676	A549	lung:	n/a	n/a
13	GATA3	chr1:197017701-197017741	SH-SY5Y	brain:	n/a	n/a
14	MAFF	chr1:197013263-197013529	HepG2	liver:	n/a	chr1:197013359-197013377 chr1:197013400-197013418
15	MAFK	chr1:197013284-197013504	HepG2	liver:	n/a	chr1:197013401-197013416 chr1:197013360-197013375
16	MAFK	chr1:197013353-197013453	IMR90	lung:	n/a	chr1:197013401-197013416 chr1:197013360-197013375
17	MAFK	chr1:197013220-197013524	HepG2	liver:	n/a	chr1:197013401-197013416 chr1:197013360-197013375
18	MAFK	chr1:197018401-197018519	IMR90	lung:	n/a	n/a
19	MAFK	chr1:197018305-197018538	HepG2	liver:	n/a	n/a
20	MAFK	chr1:197018410-197018522	HepG2	liver:	n/a	n/a
21	MYC	chr1:197013344-197013426	MCF-7	breast:	n/a	n/a
22	MYC	chr1:197013330-197013430	MCF-7	breast:	n/a	n/a
23	MYC	chr1:197013327-197013425	MCF-7	breast:	n/a	n/a
24	MYC	chr1:197013343-197013415	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:197013340-197013402	A549	lung:	n/a	n/a
26	POLR2A	chr1:197013293-197013462	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:197013257-197013482	MCF-7	breast:	n/a	n/a
28	REST	chr1:197012110-197012621	A549	lung:	n/a	n/a
29	RUNX3	chr1:197011053-197011457	GM12878	blood:	n/a	n/a
30	RUNX3	chr1:197010999-197011473	GM12878	blood:	n/a	n/a
31	SP1	chr1:197011917-197012568	A549	lung:	n/a	n/a
32	SPI1	chr1:197015283-197015473	GM12878	blood:	n/a	n/a
33	STAT3	chr1:197010029-197010165	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr1:197018797-197018852	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr1:197018415-197018480	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr1:197023934-197023968	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr1:197011577-197012641	A549	lung:	n/a	n/a
38	YY1	chr1:197013018-197013166	K562	blood:	n/a	n/a
39	YY1	chr1:197012986-197013255	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197000503..197002101-chr1:197024032..197026765,2	K562	blood:
2	chr1:197017643..197020218-chr1:197023461..197025203,2	MCF-7	breast:
3	chr1:197017524..197019536-chr1:197026374..197028329,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPM-2	chr1:197019827-197019975	NONHSAT008610
2	lnc-ASPM-2	chr1:197009275-197009507	NONHSAT008610
3	lnc-ASPM-2	chr1:197009652-197009865	NONHSAT008610

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	F13B	hsa-miR-26b-5p	chr1:197008392-197008411

Variant related genes	Relation type
F13B	TF binding region
ENSG00000143278	chromatin interactions

Extended variants
information (count: 688 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs857021	chr1:197007479-197007480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533700913	chr1:197007488-197007489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527571360	chr1:197007540-197007541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552621523	chr1:197007559-197007560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553476514	chr1:197007580-197007581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551984323	chr1:197007591-197007592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563930208	chr1:197007625-197007626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373788863	chr1:197007663-197007664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377459506	chr1:197007665-197007666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10719375	chr1:197007666-197007667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528218870	chr1:197007684-197007685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574824953	chr1:197007689-197007690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184198381	chr1:197007709-197007710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145765814	chr1:197007734-197007735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549254464	chr1:197007745-197007746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs857022	chr1:197007755-197007756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs857023	chr1:197007804-197007805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551280312	chr1:197007825-197007826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112070696	chr1:197007831-197007832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3138525	chr1:197007832-197007833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77625444	chr1:197007859-197007860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575206970	chr1:197007863-197007864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138458546	chr1:197007902-197007903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562917871	chr1:197007944-197007945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546102698	chr1:197007961-197007962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370230876	chr1:197007972-197007973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188576703	chr1:197007983-197007984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534306048	chr1:197008059-197008060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555539797	chr1:197008081-197008082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564398246	chr1:197008174-197008175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17514830	chr1:197008199-197008200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544305842	chr1:197008218-197008219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573105492	chr1:197008233-197008234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556119836	chr1:197008300-197008301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575191063	chr1:197008315-197008316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545688760	chr1:197008325-197008326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180977741	chr1:197008346-197008347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs698859	chr1:197008365-197008366	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs145188274	chr1:197008372-197008373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17549873	chr1:197008419-197008420	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561861937	chr1:197008500-197008501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370004456	chr1:197008508-197008509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149959295	chr1:197008515-197008516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561359007	chr1:197008533-197008534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374392525	chr1:197008544-197008545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568864070	chr1:197008576-197008577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5990	chr1:197008597-197008598	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138524182	chr1:197008629-197008630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185899062	chr1:197008644-197008645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17549866	chr1:197008670-197008671	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197004800-197010600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:197005000-197012000	Weak transcription	A549	lung
3	chr1:197006400-197008200	Weak transcription	Liver	Liver
4	chr1:197008200-197011400	Strong transcription	Liver	Liver
5	chr1:197010600-197010800	Enhancers	GM12878-XiMat	blood
6	chr1:197010600-197011200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:197010600-197011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:197010600-197011600	Active TSS	Osteobl	bone
9	chr1:197010800-197011000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:197010800-197011200	Enhancers	Dnd41	blood
11	chr1:197010800-197011200	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:197011000-197011200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:197011000-197011400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:197011200-197011400	Active TSS	GM12878-XiMat	blood
15	chr1:197011400-197017400	Weak transcription	Liver	Liver
16	chr1:197011800-197012800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:197012000-197012400	Active TSS	A549	lung
18	chr1:197012000-197013400	Enhancers	HepG2	liver
19	chr1:197012600-197013000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:197013200-197013600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:197017400-197029400	Strong transcription	Liver	Liver

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